HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46399368T>G , CM000663.2:g.46399368T>G | GRCh38 |
NC_000001.10:g.46865040T>G , CM000663.1:g.46865040T>G | GRCh37 |
NC_000001.9:g.46637627T>G | NCBI36 |
NG_012195.1:g.10102T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243167.9:c.196-2723T>G MANE Select | ENSP00000243167.8:n.196-2723T>G | |
ENST00000243167.8:c.196-2723T>G | ENSP00000243167.8:n.196-2723T>G | |
ENST00000468718.5:n.216-2723T>G | ||
ENST00000493735.5:n.174-2723T>G | ||
NM_001441.2:c.196-2723T>G | NP_001432.2:n.196-2723T>G | |
NM_001441.3:c.196-2723T>G MANE Select | NP_001432.2:n.196-2723T>G |